Canonical Allele Identifier: CA408424128

Gene: CST3

Linked Data

• dbSNP Id: rs576809508
• gnomAD v4: 20-23637664-T-G
• MyVariant Identifiers: chr20:g.23618301T>G (hg19) ; chr20:g.23637664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637664T>G , CM000682.2:g.23637664T>G	GRCh38
NC_000020.10:g.23618301T>G , CM000682.1:g.23618301T>G	GRCh37
NC_000020.9:g.23566301T>G	NCBI36
NG_012887.2:g.5274A>C
NG_012887.3:g.5274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.199A>C MANE Select	ENSP00000366124.3:p.Met67Leu
ENST00000376925.7:c.199A>C	ENSP00000366124.3:p.Met67Leu
ENST00000398409.1:c.199A>C	ENSP00000381446.1:p.Met67Leu
ENST00000398411.5:c.199A>C	ENSP00000381448.1:p.Met67Leu
NM_000099.3:c.199A>C	NP_000090.1:p.Met67Leu
NM_001288614.1:c.199A>C	NP_001275543.1:p.Met67Leu
NM_000099.4:c.199A>C MANE Select	NP_000090.1:p.Met67Leu
NM_001288614.2:c.199A>C	NP_001275543.1:p.Met67Leu